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Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.
Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD. AI/ACD is easily confused with iron-deficiency anemia because in both forms of anemia levels of iron circulating in the blood are low. Iron in the body is found both circulating in the blood and stored in body tissues. Circulating iron is necessary for red blood cell production. Low blood iron levels occur in iron-deficiency anemia because levels of the iron stored in the bodys tissues are depleted. In AI/ACD, however, iron stores are normal or high. Low blood iron levels occur in AI/ACD, despite normal iron stores, because inflammatory and chronic diseases interfere with the bodys ability to use stored iron and absorb iron from the diet. AI/ACD is the second most common form of anemia, after iron-deficiency anemia.1
Most people with isolated pilomatricoma do not have any other affected family members. However, rare families with multiple affected members have been reported. In these cases, the inheritance pattern of the condition (if any) is unknown.
Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.
Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis).
How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. Phlebotomy aids in ridding the body of excess iron and maintaining normal iron stores. Most people begin treatment with weekly therapeutic phlebotomy of 500 mL whole blood-although sometimes treatment is initially twice a week. Maintenance phlebotomy usually involves treatment every 2-3 weeks in which 1 unit of blood is removed. For more detailed information regarding the treatment of hemochromatosis, please reference Medscape at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/177216-treatment
Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important source of energy during fasting or when energy demands are increased, such as during illness or when exercising. OXCT1 gene mutations result in the production of a SCOT enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur. Individuals with mutations that create an enzyme with partial function are still prone to ketoacidotic attacks, but are less likely to have persistent ketosis.
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.
These resources address the diagnosis or management of renal tubular dysgenesis: - Genetic Testing Registry: Renal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy
These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 - Genetic Testing Registry: L-2-hydroxyglutaric aciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.
Primary polycythemia (polycythemia vera) can't be prevented. However, with proper treatment, you can prevent or delay symptoms and complications. Sometimes you can prevent secondary polycythemia by avoiding things that deprive your body of oxygen for long periods. For example, you can avoid mountain climbing, living at a high altitude, or smoking. People who have serious heart or lung diseases may develop secondary polycythemia. Treatment for the underlying disease may improve the secondary polycythemia. Following a healthy lifestyle to lower your risk of heart and lung diseases also will help you prevent secondary polycythemia.
Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are not present in the germ cells (egg and sperm), they are not passed on to the next generation. Cutaneous mastocytosis can rarely affect more than one family member. In these cases, the condition is typically inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. A person with familial cutaneous mastocytosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encyclopedia: Aspiration Pneumonia - MedlinePlus Encyclopedia: Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Childhood interstitial lung disease (chILD) has many signs and symptoms because the disease has many forms. Signs and symptoms may include: Fast breathing, which also is called tachypnea (tak-ip-NE-ah) Labored breathing, which also is called respiratory distress Low oxygen levels in the blood, which also is called hypoxemia (hi-POK-se-ah) Recurrent coughing, wheezing, or crackling sounds in the chest Shortness of breath during exercise (in older children) or while eating (in infants), which also is called dyspnea (disp-NE-ah) Poor growth or failure to gain weight Recurrent pneumonia or bronchiolitis If your child has any of these signs and symptoms, contact his or her doctor. The doctor may refer you to a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions.
These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals.
What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown. Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. The association between a history of trauma and the development of PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence. There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.
Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.
How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.
The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide.
What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.
Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies. CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with other immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system.
These resources address the diagnosis or management of Schinzel-Giedion syndrome: - Genetic Testing Registry: Schinzel-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Larsen syndrome occurs in approximately 1 in 100,000 newborns.
Treatment for palpitations depends on their cause. Most palpitations are harmless and often go away on their own. In these cases, no treatment is needed. Avoiding Triggers Your palpitations may be harmless but bothersome. If so, your doctor may suggest avoiding things that trigger them. For examples, your doctor may advise you to: Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may help you relax. Avoid or limit stimulants, such as caffeine, nicotine, or alcohol. Avoid illegal drugs, such as cocaine and amphetamines. Avoid medicines that act as stimulants, such as cough and cold medicines and some herbal and nutritional supplements. Treating Medical Conditions That May Cause Palpitations Work with your doctor to control medical conditions that can cause palpitations, such as an overactive thyroid. If you're taking medicine that's causing palpitations, your doctor will try to find a different medicine for you. If your palpitations are caused by an arrhythmia (irregular heartbeat), your doctor may recommend medicines or procedures to treat the problem. For more information, go to the Health Topics Arrhythmia article.
These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladder - MedlinePlus Encyclopedia: Spasticity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. How is Greig cephalopolysyndactyly syndrome diagnosed? Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include: an abnormally large head size (macrocephaly) greater than the 97th percentile widely spaced eyes (ocular hypertelorism) limb anomalies including extra fingers or toes (polydactyly) fused skin between the fingers and toes (cutaneous syndactyly) A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene.
How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare. After a careful review of the medical literature, we did not find any information about treatment for this condition.
Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.
Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals. Microphthalmia may also be caused by environmental factors that affect early development, such as a shortage of certain vitamins during pregnancy, radiation, infections such as rubella, or exposure to substances that cause birth defects (teratogens).
Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).
Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.
Although the exact incidence of this condition is unknown, researchers estimate that it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland.
Meckel syndrome can be caused by mutations in one of at least eight genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including brain cells and certain cells in the kidneys and liver. Mutations in the genes associated with Meckel syndrome lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during early development. Although researchers believe that defective cilia are responsible for most of the features of this disorder, it remains unclear how they lead to specific developmental abnormalities of the brain, kidneys, and other parts of the body. Mutations in the eight genes known to be associated with Meckel syndrome account for about 75 percent of all cases of the condition. In the remaining cases, the genetic cause is unknown. Mutations in several other genes have been identified in people with features similar to those of Meckel syndrome, although it is unclear whether these individuals actually have Meckel syndrome or a related disorder (often described as a "Meckel-like phenotype").
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions. The NINDS supports a broad range of basic and clinical research on intracranial aneurysms and other vascular lesions of the nervous system. The Familial Intracranial Aneurysm study seeks to identify possible genes that may increase the risk of development of aneurysms in blood vessels in the brain. Other research projects include genome-wide studies to identify genes or DNA sequences that may indicate families harboring one type of aneurysm may be at increased risk of another type; studies of chromosomes to identify aneurysm-related genes; and additional research on microsurgical clipping and endovascular surgery to treat various types of ruptured and unruptured aneurysms.
About 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals. 3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.
Acromicric dysplasia is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.
Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain.
The prevalence of Pendred syndrome is unknown. However, researchers estimate that it accounts for 7 to 8 percent of all hearing loss that is present from birth (congenital hearing loss).
Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. This damage can cause wastes to build up in the body and other problems that can harm a persons health, including mineral and bone disorder.
Imbalances in the substances that make up bile cause gallstones. Gallstones may form if bile contains too much cholesterol, too much bilirubin, or not enough bile salts. Scientists do not fully understand why these imbalances occur. Gallstones also may form if the gallbladder does not empty completely or often enough. The two types of gallstones are cholesterol and pigment stones: - Cholesterol stones, usually yellow-green in color, consist primarily of hardened cholesterol. In the United States, more than 80 percent of gallstones are cholesterol stones.1 - Pigment stones, dark in color, are made of bilirubin.
Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body's cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited.
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.
Mutations in the PABPN1 gene cause oculopharyngeal muscular dystrophy. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein alters a region at the end of the mRNA molecule that protects the mRNA from being broken down and allows it to move within the cell. The PABPN1 protein contains an area where the protein building block (amino acid) alanine is repeated 10 times. This stretch of alanines is known as a polyalanine tract. The role of the polyalanine tract in normal PABPN1 protein function is unknown. Mutations in the PABPN1 gene that cause oculopharyngeal muscular dystrophy result in a PABPN1 protein that has an extended polyalanine tract. The extra alanines cause the PABPN1 protein to form clumps within muscle cells that accumulate because they cannot be broken down. These clumps (called intranuclear inclusions) are thought to impair the normal functioning of muscle cells and eventually cause cell death. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with oculopharyngeal muscular dystrophy. It is not known why dysfunctional PABPN1 proteins seem to affect only certain muscle cells.
The most common symptoms of a cataract are - cloudy or blurry vision - colors seem faded - glare -- headlights, lamps, or sunlight appearing too bright, or a halo may appear around lights - poor night vision - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. cloudy or blurry vision colors seem faded glare -- headlights, lamps, or sunlight appearing too bright, or a halo may appear around lights poor night vision double vision or multiple images in one eye frequent prescription changes in your eyeglasses or contact lenses. These symptoms can also be a sign of other eye problems. If you have any of these symptoms, check with your eye care professional.
Key Points - Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. - Patients with essential thrombocythemia may have no signs or symptoms. - Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. Essential thrombocythemia causes an abnormal increase in the number of platelets made in the blood and bone marrow.
Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause of the condition is unknown.
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.
Summary : Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include - Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions. - A hearing test that measures the baby's response to sound - A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect. These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent. If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away. NIH: National Institute of Child Health and Human Development
How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development.
Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
What are the signs and symptoms of Congenital primary aphakia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital primary aphakia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aniridia - Anterior segment of eye aplasia - Autosomal recessive inheritance - Congenital primary aphakia - Microphthalmia - Sclerocornea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Becker disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Because several CLCN1 mutations can cause either Becker disease or Thomsen disease, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita.
Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes the isolated deficiency of IgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested to have pneumococcal and meningococcal vaccines, prophylactic antibiotics to patients who have recurrent infections and immune globulin replacement.
Trimethoprim/sulfamethoxazole (TMP/SMX), sold under the trade names Bactrim, Septra, and Cotrim, is the usual therapy for Cyclospora infection. No highly effective alternative antibiotic regimen has been identified yet for patients who do not respond to the standard treatment or have a sulfa allergy. More on: Resources for Health Professionals: Treatment Most people who have healthy immune systems will recover without treatment. If not treated, the illness may last for a few days to a month or longer. Symptoms may seem to go away and then return one or more times (relapse). Anti-diarrheal medicine may help reduce diarrhea, but a health care provider should be consulted before such medicine is taken. People who are in poor health or who have weakened immune systems may be at higher risk for severe or prolonged illness. More on: Resources for Health Professionals FAQs Use of trade names is for identification only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.
The exact prevalence of pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes. Mutations in the CAT gene greatly reduce the activity of catalase. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene. A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called insulin that helps control blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes mellitus in people with acatalasemia. It is unclear why some people have no health problems associated with a loss of catalase activity. Many people with reduced catalase activity do not have an identified mutation in the CAT gene; in these cases, the cause of the condition is unknown. Researchers believe that other genetic and environmental factors can also influence the activity of catalase.
Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development. Mutations in the SRCAP gene may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown. Rubinstein-Taybi syndrome, a disorder with similar features, is caused by mutations in the CREBBP gene itself.
These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where the disease prevalence has been studied, it is estimated to affect 1 in 1 million people. However, the disorder is likely underdiagnosed, so it may actually be more common than this. FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia.
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells. Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals.
Strep is short for Streptococcus, a type of bacteria. There are two types: group A and group B. Group A strep causes - Strep throat - a sore, red throat, sometimes with white spots on the tonsils - Scarlet fever - an illness that follows strep throat. It causes a red rash on the body. - Impetigo - a skin infection - Toxic shock syndrome - Cellulitis and necrotizing fasciitis (flesh-eating disease) Group B strep can cause blood infections, pneumonia and meningitis in newborns. A screening test during pregnancy can tell if you have it. If you do, I.V. antibiotics during labor can save your baby's life. Adults can also get group B strep infections, especially if they are elderly or already have health problems. Strep B can cause urinary tract infections, blood infections, skin infections and pneumonia in adults. Antibiotics are used to treat strep infections. NIH: National Institute of Allergy and Infectious Diseases
Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.
Regardless of the type of treatment you receive, you will be closely monitored to see how well the treatment is working. Monitoring may include - a PSA blood test, usually every 3 months to 1 year. - bone scan and/or CT scan to see if the cancer has spread. a PSA blood test, usually every 3 months to 1 year. bone scan and/or CT scan to see if the cancer has spread. - a complete blood count to monitor for signs and symptoms of anemia. - looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function. a complete blood count to monitor for signs and symptoms of anemia. looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function.
The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females.
How is Gardner syndrome inherited? Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may be ongoing or intermittent and may include chronic, watery, non-bloody diarrhea and abdominal pain or cramps. The exact underlying cause is unknown but may relate to a bacteria, a virus, an autoimmune response, and/or a genetic predisposition. Treatment for collagenous colitis varies depending on the symptoms and severity in each individual. In some cases, the condition resolves on its own.
Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone and bone marrow - Cornea Most organ and tissue donations occur after the donor has died. But some organs and tissues can be donated while the donor is alive. People of all ages and background can be organ donors. If you are under age 18, your parent or guardian must give you permission to become a donor. If you are 18 or older you can show you want to be a donor by signing a donor card. You should also let your family know your wishes. Health Resources and Services Administration
These resources address the diagnosis or management of hereditary pancreatitis: - Encyclopedia: Chronic Pancreatitis - Gene Review: Gene Review: PRSS1-Related Hereditary Pancreatitis - Gene Review: Gene Review: Pancreatitis Overview - Genetic Testing Registry: Hereditary pancreatitis - Johns Hopkins Medicine: Treatment Options for Pancreatitis - MD Anderson Cancer Center: Pancreatic Cancer Diagnosis - MedlinePlus Encyclopedia: Acute Pancreatitis - MedlinePlus Encyclopedia: Chronic Pancreatitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.
A single-celled parasite called Toxoplasma gondii causes a disease known as toxoplasmosis. While the parasite is found throughout the world, more than 60 million people in the United States may be infected with the Toxoplasma parasite. Of those who are infected, very few have symptoms because a healthy person’s immune system usually keeps the parasite from causing illness. However, pregnant women and individuals who have compromised immune systems should be cautious; for them, a Toxoplasma infection could cause serious health problems.
Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barr syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barr syndrome, symptoms may be preceded by a viral illness. Additional symptoms include generalized muscle weakness and respiratory failure. The majority of individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.
Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
What are the symptoms of Bell's palsy?
Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Most mutations in the COL2A1 gene that cause spondyloepimetaphyseal dysplasia, Strudwick type interfere with the assembly of type II collagen molecules. Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type.
Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract. ACTA1 gene mutations that cause actin-accumulation myopathy may affect the way the skeletal -actin protein binds to ATP. ATP is a molecule that supplies energy for cells' activities, and is important in the formation of thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation and impair muscle contraction, leading to muscle weakness and the other signs and symptoms of actin-accumulation myopathy. In some people with actin-accumulation myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.
Most cases of Behet disease are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance.
The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life.
These resources address the diagnosis or management of Schwartz-Jampel syndrome: - Genetic Testing Registry: Schwartz Jampel syndrome type 1 - National Institute of Neurological Disorders and Stroke: Myotonia Information Page These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy - National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. A UTI causes irritation of the lining of the bladder, urethra, ureters, and kidneys, just as the inside of the nose or the throat becomes irritated with a cold. In infants or children who are only a few years old, the signs of a UTI may not be clear because children that young cannot express exactly how they feel. Children may have a high fever, be irritable, or not eat. On the other hand, children may have only a low-grade fever; experience nausea, vomiting, and diarrhea; or just not seem healthy. Children who have a high fever and appear sick for more than a day without signs of a runny nose or other obvious cause for discomfort should be checked for a UTI. Older children with UTIs may complain of pain in the middle and lower abdomen. They may urinate often. Crying or complaining that it hurts to urinate and producing only a few drops of urine at a time are other signs of a UTI. Children may leak urine into clothing or bedsheets. The urine may look cloudy or bloody. If a kidney is infected, children may complain of pain in the back or side below the ribs. Parents should talk with their health care provider if they suspect their child has a UTI.
Key Points - Ewing sarcoma is a type of tumor that forms in bone or soft tissue. - Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. - Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. - A biopsy is done to diagnose Ewing sarcoma. - Certain factors affect prognosis (chance of recovery). Ewing sarcoma is a type of tumor that forms in bone or soft tissue. Ewing sarcoma is a type of tumor that forms from a certain kind of cell in bone or soft tissue. Ewing sarcoma may be found in the bones of the legs, arms, feet, hands, chest, pelvis, spine, or skull. Ewing sarcoma also may be found in the soft tissue of the trunk, arms, legs, head and neck, abdominal cavity, or other areas. Ewing sarcoma is most common in adolescents and young adults. Ewing sarcoma has also been called peripheral primitive neuroectodermal tumor, Askin tumor (Ewing sarcoma of the chest wall), extraosseous Ewing sarcoma (Ewing sarcoma in tissue other than bone), and Ewing sarcoma family of tumors.
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
What causes syndrome of inappropriate antidiuretic hormone? Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer, pancreatic cancer, thymoma, ovarian cancer, lymphoma, pneumonia, chronic obstructive pulmonary disease, lung abscess, tuberculosis, cystic fibrosis, surgery, and drugs. SIADH has also been reported in association with AIDS, temporal arteritis, polyarteritis nodosa, sarcoidosis, Rocky Mountain spotted fever, carcinoma of the cervix, olfactory neuroblastoma, and herpes zoster infection of the chest wall. Often the underlying cause of the condition can not be determined. In these cases the condition is said to be idiopathic.
What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this disorder have been identified in other regions of the world.
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.
PHA1 is a rare condition that has been estimated to affect 1 in 80,000 newborns.
High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. There are two main types of high blood pressure: primary and secondary high blood pressure. Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed.
These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Testing Registry: Neuroblastoma 2 - Genetic Testing Registry: Neuroblastoma 3 - National Cancer Institute - The Children's Hospital of Pennsylvania These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.
The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute
What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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